Assay Details
Target Gene Details
Entrez Gene ID: | 84693 |
Gene Name: | methylmalonyl-CoA epimerase |
Gene Aliases: |
GLOD2 |
Location: |
Chr.2:71109676-71130288 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MCEE | NM_032601.3 | NP_115990.3 | ||
XM_005264613.2 | XP_005264670.1 | |||
AF364547.1 | AAK52052.1 | |||
AI033764.1 | ||||
BC020825.1 | AAH20825.1 | |||
BM271757.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1009014 | Chr.2:71096874 - 71181739 on Build GRCh38 | Gain | MPHOSPH10 MCEE |
esv2759059 | Chr.2:71115012 - 71146290 on Build GRCh38 | Loss | MPHOSPH10 MCEE |
esv22790 | Chr.2:71115076 - 71120682 on Build GRCh38 | Loss | MCEE |
nsv10002 | Chr.2:71114936 - 71121584 on Build GRCh38 | Loss | MCEE |
esv3591223 | Chr.2:71115410 - 71120756 on Build GRCh38 | Loss | MCEE |
nsv436287 | Chr.2:71115258 - 71120663 on Build GRCh38 | Deletion | MCEE |
nsv818028 | Chr.2:71115426 - 71118631 on Build GRCh38 | Loss | MCEE |
esv2678453 | Chr.2:71115408 - 71120760 on Build GRCh38 | Deletion | MCEE |
esv2662403 | Chr.2:71079295 - 71179547 on Build GRCh38 | Deletion | MPHOSPH10 MCEE |
nsv517762 | Chr.2:71100222 - 71124357 on Build GRCh38 | Gain+Loss | MCEE |
nsv2771 | Chr.2:71108462 - 71145252 on Build GRCh38 | Deletion | MPHOSPH10 MCEE |
esv2720185 | Chr.2:71079275 - 71185049 on Build GRCh38 | Deletion | MPHOSPH10 PAIP2B MCEE |
nsv834256 | Chr.2:71029484 - 71202682 on Build GRCh38 | Gain | NAGK MPHOSPH10 PAIP2B MCEE OR7E91P OR7E62P |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |